Canonical Allele Identifier: CA2792483203

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526891_66526892insACAT , CM000673.2:g.66526891_66526892insACAT	GRCh38
NC_000011.9:g.66294362_66294363insACAT , CM000673.1:g.66294362_66294363insACAT	GRCh37
NC_000011.8:g.66050938_66050939insACAT	NCBI36
NG_009093.1:g.21244_21245insACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339+84_1339+85insACAT (BBS1) MANE Select	ENSP00000317469.7:n.1339+84_1339+85insACAT
ENST00000318312.11:c.1339+84_1339+85insACAT (BBS1)	ENSP00000317469.7:n.1339+84_1339+85insACAT
ENST00000393994.4:c.952+84_952+85insACAT (BBS1)	ENSP00000377563.2:n.952+84_952+85insACAT
ENST00000419755.3:c.1450+84_1450+85insACAT	ENSP00000398526.3:n.1450+84_1450+85insACAT
ENST00000455748.6:c.1048+84_1048+85insACAT (BBS1)	ENSP00000405764.2:n.1048+84_1048+85insACAT
ENST00000526760.5:c.*1046+84_*1046+85insACAT (BBS1)	ENSP00000432140.1:n.*1046+84_*1046+85insACAT
ENST00000526986.5:c.*21+44_*21+45insATGT (ZDHHC24)	ENSP00000431321.1:n.*21+44_*21+45insATGT
ENST00000527959.1:n.567_568insACAT (BBS1)
ENST00000529766.5:n.1430_1431insACAT (BBS1)
ENST00000529955.5:n.1310+84_1310+85insACAT (BBS1)
ENST00000534073.5:c.*21+44_*21+45insATGT (ZDHHC24)	ENSP00000436503.1:n.*21+44_*21+45insATGT
ENST00000630659.2:c.*1046+84_*1046+85insACAT (BBS1)	ENSP00000486455.1:n.*1046+84_*1046+85insACAT
NM_024649.4:c.1339+84_1339+85insACAT (BBS1)	NP_078925.3:n.1339+84_1339+85insACAT
XM_005273874.3:c.*21+44_*21+45insATGT (ZDHHC24)	XP_005273931.1:n.*21+44_*21+45insATGT
XM_011544894.1:c.*21+44_*21+45insATGT (ZDHHC24)	XP_011543196.1:n.*21+44_*21+45insATGT
XM_011544895.1:c.560-2616_560-2615insATGT (ZDHHC24)	XP_011543197.1:n.560-2616_560-2615insATGT
XR_949860.1:n.686+44_686+45insATGT (ZDHHC24)
NM_001348571.1:c.*21+44_*21+45insATGT (ZDHHC24)	NP_001335500.1:n.*21+44_*21+45insATGT
XM_005273874.4:c.*21+44_*21+45insATGT (ZDHHC24)	XP_005273931.1:n.*21+44_*21+45insATGT
XM_011544894.2:c.*21+44_*21+45insATGT (ZDHHC24)	XP_011543196.1:n.*21+44_*21+45insATGT
XR_001747823.2:n.741-2616_741-2615insATGT (ZDHHC24)
XR_949860.3:n.811+44_811+45insATGT (ZDHHC24)
NM_024649.5:c.1339+84_1339+85insACAT (BBS1) MANE Select	NP_078925.3:n.1339+84_1339+85insACAT
NM_001348571.2:c.*21+44_*21+45insATGT (ZDHHC24)	NP_001335500.1:n.*21+44_*21+45insATGT